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Integrating multiomic analyses for gene discovery andgenetic diagnosis of Mendelian myopathies

Award Number: K23AR083505
ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 02/16/2024
PERIOD OF PERFORMANCE END DATE: 01/31/2029

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Integrating multiomic analyses for gene discovery andgenetic diagnosis of Mendelian myopathies - PROJECT SUMMARY/ABSTRACT This NIH K23 proposal details a comprehensive five-year training plan for mentored patient-oriented research career development and research to address a major problem in neuromuscular medicine. Over half of patients with clinically suspected Mendelian myopathies do not have a molecular diagnosis, largely due to two challenges: detecting pathogenic non-coding variants, and resolving the pathogenicity of ultra-rare missense variants. Here I propose to address this challenge through the application of genome sequencing (Aim 1), transcriptome sequencing (Aim 2), and proteomic (Aim 3) methods to evaluate the strengths and weakness of each method and to improve the diagnostic yield from a cohort of approximately 200 individuals with unsolved Mendelian myopathies. I hypothesize that since the genetic architecture of Mendelian myopathies implicates large genes that genome sequencing combined with RNA-sequencing (RNA-seq) and proteomics can mitigate the current low diagnostic yield after clinical evaluation of Mendelian myopathies. Through these approaches, I will define best practices in applying technologies in the diagnostic evaluation, discover novel disease variants and genes, and expand our understanding of the genetic architecture of these heterogeneous disorders. Gaining the analytical skills to evaluate the real-world application of multiomic methods will complement both my prior expertise in gene discovery for neurologic disorders and my clinical training in neuromuscular medicine. I am uniquely positioned within the collaborative environment between Brigham and Women’s Hospital, Boston Children’s Hospital, Broad Institute, and Harvard Medical School to facilitate my transition to an independent physician-scientist with a long-term translational research goal of developing a center of excellence in the clinical characterization, molecular diagnosis, and evaluation of targeted gene therapy candidates for patients with Mendelian myopathies.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $173,880 )
2026	2026	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	3	4/17/2026	NON-COMPETING CONTINUATION	$173,880
														Subtotal = $173,880

Issue Date FY: 2025 ( Subtotal = $173,880 )
2025	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	2	2/19/2025	NON-COMPETING CONTINUATION	$173,880
														Subtotal = $173,880

Issue Date FY: 2024 ( Subtotal = $173,880 )
2024	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	1	2/16/2024	NEW	$173,880
														Subtotal = $173,880

Grand Total All Awards = $521,640

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Integrating multiomic analyses for gene discovery andgenetic diagnosis of Mendelian myopathies

Award Number: K23AR083505

ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 02/16/2024

PERIOD OF PERFORMANCE END DATE: 01/31/2029

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